Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000605828 | SCV000713465 | uncertain significance | not specified | 2017-08-18 | criteria provided, single submitter | clinical testing | The p.Ala12276Gly variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Ala12276Gly varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Ala12276G ly variant is uncertain. |
| Ambry Genetics | RCV002404617 | SCV002713259 | uncertain significance | Cardiovascular phenotype | 2020-02-20 | criteria provided, single submitter | clinical testing | The p.A5779G variant (also known as c.17336C>G), located in coding exon 68 of the TTN gene, results from a C to G substitution at nucleotide position 17336. The alanine at codon 5779 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Mayo Clinic Laboratories, |
RCV003480712 | SCV004225872 | uncertain significance | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | PM2_supporting |